Skip to content

PL and GQ

Definition
AI-generated

PL and GQ are complementary VCF FORMAT fields for a sample at a variant site.

Why it matters in GWAS

Together, PL and GQ determine how much confidence to place in hard genotype calls when building cohort VCFs, masking low-confidence genotypes, or exporting to dosage-based formats for association software.

Example usage

"After joint calling, we QC’d FORMAT PL and GQ together: genotypes with GQ < 20 were set to missing once PL supported the reported GT."

References

  • Danecek P, et al. (2021). Twelve years of SAMtools and BCFtools. Gigascience.
  • HTS specifications: VCF. https://samtools.github.io/hts-specs/

Last updated (UTC · Git history)